Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:AA986860'

323530

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

040096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130743169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 376 (L376P)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039323]

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: L376P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: L376P

Domain	Start	End	E-Value	Type
Pfam:SARG	33	606	1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,517,546 (GRCm38)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,376,067 (GRCm38)	K197R	probably benign	Het
4932438A13Rik	C	T	3: 36,988,256 (GRCm38)	T2797I	probably damaging	Het
4932438A13Rik	T	C	3: 36,953,970 (GRCm38)	V1725A	probably damaging	Het
9130011E15Rik	A	T	19: 45,952,680 (GRCm38)	L300Q	probably damaging	Het
Adamts10	T	C	17: 33,551,192 (GRCm38)		probably null	Het
Adamts7	T	C	9: 90,188,440 (GRCm38)		probably null	Het
Adgrl1	T	C	8: 83,934,464 (GRCm38)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,589,500 (GRCm38)	V583M	probably damaging	Het
Apba2	T	A	7: 64,695,593 (GRCm38)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,270,241 (GRCm38)	K297R	probably benign	Het
Atg14	A	T	14: 47,542,895 (GRCm38)	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,715,230 (GRCm38)	V1046F	probably benign	Het
Best1	A	G	19: 9,992,079 (GRCm38)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,724,579 (GRCm38)	S206P	probably damaging	Het
Cacna1h	C	T	17: 25,432,876 (GRCm38)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,151,991 (GRCm38)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,483,342 (GRCm38)		probably null	Het
Cd248	A	T	19: 5,070,046 (GRCm38)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,394,234 (GRCm38)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 107,071,006 (GRCm38)	H113R	probably damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Ddx59	T	A	1: 136,416,709 (GRCm38)	D39E	probably benign	Het
Defa5	A	G	8: 21,297,497 (GRCm38)	D20G	probably damaging	Het
Dido1	A	T	2: 180,661,884 (GRCm38)	V1409E	probably benign	Het
Dlc1	A	T	8: 36,937,609 (GRCm38)	V342E	probably benign	Het
Dsc2	G	A	18: 20,033,294 (GRCm38)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,649,588 (GRCm38)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,377,053 (GRCm38)		probably null	Het
Fbp2	G	T	13: 62,858,207 (GRCm38)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,534,622 (GRCm38)	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,943,479 (GRCm38)	E415G	probably damaging	Het
Glp1r	T	C	17: 30,925,549 (GRCm38)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,899,275 (GRCm38)		noncoding transcript	Het
Gm42669	G	A	5: 107,507,910 (GRCm38)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,063 (GRCm38)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,697,976 (GRCm38)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,110,412 (GRCm38)	I168T	probably damaging	Het
Hat1	T	C	2: 71,434,034 (GRCm38)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,117,086 (GRCm38)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,817,907 (GRCm38)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm38)	Q715*	probably null	Het
Lamb1	T	A	12: 31,287,429 (GRCm38)	N386K	probably damaging	Het
Lcmt2	T	C	2: 121,138,616 (GRCm38)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,620,066 (GRCm38)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,587 (GRCm38)	D343A	probably benign	Het
Mars	A	G	10: 127,299,285 (GRCm38)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,684,011 (GRCm38)		probably benign	Het
Mlip	C	T	9: 77,164,863 (GRCm38)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,197,057 (GRCm38)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,333,677 (GRCm38)	H442L	probably damaging	Het
Myrf	A	T	19: 10,224,600 (GRCm38)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,361,045 (GRCm38)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm38)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,450,153 (GRCm38)	L395P	probably damaging	Het
Nrros	C	T	16: 32,144,157 (GRCm38)	W311*	probably null	Het
Nsun6	A	G	2: 15,039,731 (GRCm38)		probably null	Het
Ntrk2	A	G	13: 58,859,301 (GRCm38)	H239R	possibly damaging	Het
Olfr1301	A	T	2: 111,754,386 (GRCm38)	M46L	probably benign	Het
Olfr259	T	C	2: 87,108,262 (GRCm38)	N42D	probably damaging	Het
Olfr495	A	G	7: 108,395,861 (GRCm38)	H247R	probably damaging	Het
Olfr979	T	C	9: 40,001,204 (GRCm38)	T8A	probably benign	Het
Pate4	C	A	9: 35,608,257 (GRCm38)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,490,600 (GRCm38)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm38)		probably benign	Het
Pigm	T	C	1: 172,377,533 (GRCm38)	Y279H	probably damaging	Het
Pla2g16	A	G	19: 7,579,109 (GRCm38)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,713,683 (GRCm38)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,779,894 (GRCm38)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,569,365 (GRCm38)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,242,845 (GRCm38)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,847,117 (GRCm38)	I124N	probably damaging	Het
Rest	A	G	5: 77,281,279 (GRCm38)	K515R	possibly damaging	Het
Ryr1	A	G	7: 29,086,049 (GRCm38)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,945,977 (GRCm38)	T25K	probably benign	Het
Sacs	A	T	14: 61,191,919 (GRCm38)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,239,158 (GRCm38)	D52V	probably damaging	Het
Skint6	T	C	4: 112,846,684 (GRCm38)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,698 (GRCm38)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,017,139 (GRCm38)		probably benign	Het
Slc24a2	G	T	4: 87,011,646 (GRCm38)	P538T	probably damaging	Het
Sntg1	T	A	1: 8,595,539 (GRCm38)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,476,499 (GRCm38)	Y73C	probably null	Het
St18	G	A	1: 6,827,971 (GRCm38)	V666M	probably benign	Het
Suclg1	A	G	6: 73,264,276 (GRCm38)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,684,139 (GRCm38)	I428V	possibly damaging	Het
Th	T	A	7: 142,895,543 (GRCm38)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,773,641 (GRCm38)	S813R	unknown	Het
Tnrc6a	T	C	7: 123,172,120 (GRCm38)		probably null	Het
Trap1	A	C	16: 4,046,039 (GRCm38)	Y472*	probably null	Het
Trdv1	C	A	14: 53,882,169 (GRCm38)	Q96K	probably benign	Het
Trpm8	T	C	1: 88,343,326 (GRCm38)	I446T	probably damaging	Het
Tti2	T	C	8: 31,154,266 (GRCm38)	L297P	probably damaging	Het
Ttn	T	C	2: 76,757,144 (GRCm38)	D13208G	probably damaging	Het
Ttn	C	T	2: 76,735,011 (GRCm38)	G26545R	probably damaging	Het
Tubb3	A	G	8: 123,421,678 (GRCm38)		probably null	Het
Umodl1	A	G	17: 30,971,919 (GRCm38)	M247V	probably benign	Het
Wrn	T	A	8: 33,267,825 (GRCm38)	H812L	probably benign	Het
Zfp174	A	G	16: 3,854,642 (GRCm38)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,242,757 (GRCm38)	K134*	probably null	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130,742,836 (GRCm38)	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130,742,722 (GRCm38)	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130,742,707 (GRCm38)	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130,743,772 (GRCm38)	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130,743,393 (GRCm38)	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130,742,898 (GRCm38)	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130,743,825 (GRCm38)	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably benign
R0932:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably null
R1522:AA986860	UTSW	1	130,743,094 (GRCm38)	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130,737,688 (GRCm38)	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130,742,691 (GRCm38)	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130,741,069 (GRCm38)	missense	probably damaging	1.00
R2093:AA986860	UTSW	1	130,743,304 (GRCm38)	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130,741,189 (GRCm38)	splice site	probably benign
R3915:AA986860	UTSW	1	130,742,607 (GRCm38)	missense	probably benign
R4679:AA986860	UTSW	1	130,742,403 (GRCm38)	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130,743,355 (GRCm38)	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130,740,988 (GRCm38)	splice site	probably benign
R4988:AA986860	UTSW	1	130,742,710 (GRCm38)	missense	probably damaging	1.00
R5171:AA986860	UTSW	1	130,742,847 (GRCm38)	missense	probably benign	0.23
R5327:AA986860	UTSW	1	130,741,003 (GRCm38)	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130,742,941 (GRCm38)	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130,743,031 (GRCm38)	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130,741,171 (GRCm38)	nonsense	probably null
R6247:AA986860	UTSW	1	130,743,043 (GRCm38)	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130,742,887 (GRCm38)	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130,743,547 (GRCm38)	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130,742,991 (GRCm38)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AGCTGCCACCTAATATAGTCCTG -3'
(R):5'- ACCTTTCCTGGAGGGGTTTC -3'

Sequencing Primer
(F):5'- TGCCACCTAATATAGTCCTGAAGAG -3'
(R):5'- AGGGGTTTCCTGGGTAGG -3'

Posted On

2015-06-24